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Center for Computational Systems Medicine
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Fusion Gene and Fusion Protein Summary

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Fusion Amino Acid Sequences (multiple BPs and multiple gene isoforms)

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Fusion Protein Breakpoint Sequences - (for the Screening of the FusionNeoAntigens)

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Potential FusionNeoAntigens in HLA I - (netMHCpan v4.1 + deepHLApan v1.1)

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Potential FusionNeoAntigens in HLA II - (netMHCIIpan v4.1)

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Fusion Breakpoint 14 AA Peptide Structure - (RoseTTAFold)

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Filtering FusionNeoAntigens Through Checking the Interaction with HLAs in 3D - (Glide)

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Vaccine Design for the FusionNeoAntigens (RNA/protein sequences)

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Potential target of CAR-T therapy development

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Information on the samples that have these potential fusion neoantigens

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Fusion Protein Targeting Drugs - (Manual Curation)

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Fusion Protein Related diseases - (Manual Curation)

Fusion Protein:EPHA1-C11orf80

Fusion Gene and Fusion Protein Summary

check button Fusion gene summary
Fusion partner gene informationFusion gene name: EPHA1-C11orf80
FusionPDB ID: 26944
FusionGDB2.0 ID: 26944
HgeneTgene
Gene symbol

EPHA1

C11orf80

Gene ID

2041

79703

Gene nameEPH receptor A1chromosome 11 open reading frame 80
SynonymsEPH|EPHT|EPHT1HYDM4|TOP6BL|TOPOVIBL
Cytomap

7q34-q35

11q13.2

Type of geneprotein-codingprotein-coding
Descriptionephrin type-A receptor 1eph tyrosine kinase 1erythropoietin-producing hepatoma amplified sequenceerythropoietin-producing hepatoma receptorhEpha1oncogene EPHsoluble EPHA1 variant 1soluble EPHA1 variant 2tyrosine-protein kinase receptor EPHtype 2 DNA topoisomerase 6 subunit B-liketype 2 DNA topoisomerase VI subunit B-like
Modification date2020032020200313
UniProtAcc

Q5JZY3

Main function of 5'-partner protein: FUNCTION: Receptor for members of the ephrin-A family. Binds to EFNA3, EFNA4 and EFNA5. {ECO:0000269|PubMed:15777695}.
.
Ensembl transtripts involved in fusion geneENST idsENST00000275815, ENST00000458129, 
ENST00000527368, ENST00000346672, 
ENST00000360962, ENST00000525449, 
ENST00000527634, ENST00000532565, 
ENST00000540737, 
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)* DoF score8 X 9 X 3=21619 X 19 X 10=3610
# samples 1024
** MAII scorelog2(10/216*10)=-1.11103131238874
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(24/3610*10)=-3.91089252616601
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Fusion gene context

PubMed: EPHA1 [Title/Abstract] AND C11orf80 [Title/Abstract] AND fusion [Title/Abstract]

Fusion neoantigen context

PubMed: EPHA1 [Title/Abstract] AND C11orf80 [Title/Abstract] AND neoantigen [Title/Abstract]

Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)EPHA1(143095694)-C11orf80(66583524), # samples:1
Anticipated loss of major functional domain due to fusion event.EPHA1-C11orf80 seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF.
EPHA1-C11orf80 seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF.
EPHA1-C11orf80 seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF.
EPHA1-C11orf80 seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF.
* DoF score (Degree of Frequency) = # partners X # break points X # cancer types
** MAII score (Major Active Isofusion Index) = log2(# samples/DoF score*10)

check button Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID
HgeneEPHA1

GO:0001954

positive regulation of cell-matrix adhesion

19118217

HgeneEPHA1

GO:0006469

negative regulation of protein kinase activity

19118217

HgeneEPHA1

GO:0007166

cell surface receptor signaling pathway

19118217

HgeneEPHA1

GO:0018108

peptidyl-tyrosine phosphorylation

12775584

HgeneEPHA1

GO:0030336

negative regulation of cell migration

19118217

HgeneEPHA1

GO:0034446

substrate adhesion-dependent cell spreading

19118217

HgeneEPHA1

GO:0043087

regulation of GTPase activity

19118217

HgeneEPHA1

GO:0046777

protein autophosphorylation

19118217

HgeneEPHA1

GO:0090630

activation of GTPase activity

19118217



check button Four levels of functional features of fusion genes
Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/chr7:143095694/chr11:66583524)
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
- How to search
1. Put your fusion gene symbol.
2. Press the tab key until there will be shown the breakpoint information filled.
4. Go down and press 'Search' tab twice.
4. Go down to have the hyperlink of the search result.
5. Click the hyperlink.
6. See the FGviewer result for your fusion gene.
FGviewer

check buttonRetention analysis results of each fusion partner protein across 39 protein features of UniProt such as six molecule processing features, 13 region features, four site features, six amino acid modification features, two natural variation features, five experimental info features, and 3 secondary structure features, are available here.

check buttonFusion gene breakpoints across EPHA1 (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure

check buttonFusion gene breakpoints across C11orf80 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure


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Fusion Amino Acid Sequences


check buttonFusion information from ORFfinder translation from full-length transcript sequence from FusionPDB.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandSeq length
(transcript)
BP loci
(transcript)
Predicted start
(transcript)
Predicted stop
(transcript)
Seq length
(amino acids)
ENST00000275815EPHA1chr7143095694-ENST00000346672C11orf80chr1166583524+22511423872156689
ENST00000275815EPHA1chr7143095694-ENST00000360962C11orf80chr1166583524+25501423872267726
ENST00000275815EPHA1chr7143095694-ENST00000527634C11orf80chr1166583524+23241423872267726
ENST00000275815EPHA1chr7143095694-ENST00000540737C11orf80chr1166583524+23531423872264725
ENST00000275815EPHA1chr7143095694-ENST00000532565C11orf80chr1166583524+23241423872267726
ENST00000275815EPHA1chr7143095694-ENST00000525449C11orf80chr1166583524+22471423872156689

check buttonDeepORF prediction of the coding potential based on the fusion transcript sequence of in-frame fusion genes. DeepORF is a coding potential classifier based on convolutional neural network by comparing the real Ribo-seq data. If the no-coding score < 0.5 and coding score > 0.5, then the in-frame fusion transcript is predicted as being likely translated.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandNo-coding scoreCoding score
ENST00000275815ENST00000346672EPHA1chr7143095694-C11orf80chr1166583524+0.038426250.9615738
ENST00000275815ENST00000360962EPHA1chr7143095694-C11orf80chr1166583524+0.029473460.9705265
ENST00000275815ENST00000527634EPHA1chr7143095694-C11orf80chr1166583524+0.041600420.9583996
ENST00000275815ENST00000540737EPHA1chr7143095694-C11orf80chr1166583524+0.0375535150.9624465
ENST00000275815ENST00000532565EPHA1chr7143095694-C11orf80chr1166583524+0.041600420.9583996
ENST00000275815ENST00000525449EPHA1chr7143095694-C11orf80chr1166583524+0.038594970.96140504

check button Predicted full-length fusion amino acid sequences. For individual full-length fusion transcript sequence from FusionPDB, we ran ORFfinder and chose the longest ORF among all the predicted ones.

Get the fusion protein sequences from here.

Fusion protein sequence information is available in the fasta format.
>FusionGDB ID_FusionGDB isoform ID_FGname_Hgene_Hchr_Hbp_Henst_Tgene_Tchr_Tbp_Tenst_length(fusion AA) seq_BP

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Fusion Protein Breakpoint Sequences for EPHA1-C11orf80

check button +/-13 AA sequence from the breakpoints of the fusion protein sequences.
HgeneHchrHbpTgeneTchrTbpLength(fusion protein)BP in fusion proteinPeptide
EPHA1chr7143095694C11orf80chr11665835241423445HASTSVSISMGHADLVLPDVSYQVES

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Potential FusionNeoAntigen Information of EPHA1-C11orf80 in HLA I

check button Multiple sequence alignments of the potential FusionNeoAntigens per fusion breakpoints. If the MSA is empty, then it means that there were predicted fusion neoantigens in this fusion breakpoint, but those predicted fusion neoantigens were not across the breakpoint, which is not fusion-specific.
EPHA1-C11orf80_143095694_66583524.msa

check button Potential FusionNeoAntigen Information
* We used NetMHCpan v4.1 (%rank<0.5) and deepHLApan v1.1 (immunogenic score>0.5)
Fusion geneHchrHbpTgeneTchrTbpHLA IFusionNeoAntigen peptideBinding scoreImmunogenic scoreNeoantigen start (at BP 13)Neoantigen end (at BP 13)
EPHA1-C11orf80chr7143095694chr11665835241423HLA-B15:01ADLVLPDVSY0.91510.88221222
EPHA1-C11orf80chr7143095694chr11665835241423HLA-B15:25ADLVLPDVSY0.83640.89881222
EPHA1-C11orf80chr7143095694chr11665835241423HLA-B15:25HADLVLPDVSY0.99430.85671122
EPHA1-C11orf80chr7143095694chr11665835241423HLA-B35:08HADLVLPDVSY0.99310.83691122
EPHA1-C11orf80chr7143095694chr11665835241423HLA-B15:02HADLVLPDVSY0.99280.87681122
EPHA1-C11orf80chr7143095694chr11665835241423HLA-B35:01HADLVLPDVSY0.9820.77851122
EPHA1-C11orf80chr7143095694chr11665835241423HLA-C05:09HADLVLPDV0.99970.9891120
EPHA1-C11orf80chr7143095694chr11665835241423HLA-C08:15HADLVLPDV0.99860.99621120
EPHA1-C11orf80chr7143095694chr11665835241423HLA-C15:06ISMGHADLV0.99760.622716
EPHA1-C11orf80chr7143095694chr11665835241423HLA-B15:07ADLVLPDVSY0.85050.74941222
EPHA1-C11orf80chr7143095694chr11665835241423HLA-B15:05ADLVLPDVSY0.76370.87071222
EPHA1-C11orf80chr7143095694chr11665835241423HLA-B15:05HADLVLPDVSY0.98690.76181122
EPHA1-C11orf80chr7143095694chr11665835241423HLA-B15:31HADLVLPDVSY0.98420.7811122
EPHA1-C11orf80chr7143095694chr11665835241423HLA-C05:01HADLVLPDV0.99970.9891120
EPHA1-C11orf80chr7143095694chr11665835241423HLA-C04:03HADLVLPDV0.99970.98251120
EPHA1-C11orf80chr7143095694chr11665835241423HLA-C15:02ISMGHADLV0.99870.6466716
EPHA1-C11orf80chr7143095694chr11665835241423HLA-C08:02HADLVLPDV0.99860.99621120
EPHA1-C11orf80chr7143095694chr11665835241423HLA-C15:05ISMGHADLV0.99840.6975716
EPHA1-C11orf80chr7143095694chr11665835241423HLA-B15:125ADLVLPDVSY0.91510.88221222
EPHA1-C11orf80chr7143095694chr11665835241423HLA-B15:34ADLVLPDVSY0.91510.88221222
EPHA1-C11orf80chr7143095694chr11665835241423HLA-B15:33ADLVLPDVSY0.91510.88221222
EPHA1-C11orf80chr7143095694chr11665835241423HLA-B15:27ADLVLPDVSY0.91070.89941222
EPHA1-C11orf80chr7143095694chr11665835241423HLA-B15:135ADLVLPDVSY0.90260.89971222
EPHA1-C11orf80chr7143095694chr11665835241423HLA-B15:50ADLVLPDVSY0.88230.91921222
EPHA1-C11orf80chr7143095694chr11665835241423HLA-B15:35ADLVLPDVSY0.84940.88661222
EPHA1-C11orf80chr7143095694chr11665835241423HLA-B15:39ADLVLPDVSY0.83660.82361222
EPHA1-C11orf80chr7143095694chr11665835241423HLA-B15:20ADLVLPDVSY0.75850.90771222
EPHA1-C11orf80chr7143095694chr11665835241423HLA-B15:39HADLVLPDVSY0.9940.70231122
EPHA1-C11orf80chr7143095694chr11665835241423HLA-B35:11HADLVLPDVSY0.9920.79721122
EPHA1-C11orf80chr7143095694chr11665835241423HLA-B15:08HADLVLPDVSY0.98830.74411122
EPHA1-C11orf80chr7143095694chr11665835241423HLA-B15:11HADLVLPDVSY0.98760.75251122
EPHA1-C11orf80chr7143095694chr11665835241423HLA-B15:20HADLVLPDVSY0.98730.84011122
EPHA1-C11orf80chr7143095694chr11665835241423HLA-B35:43HADLVLPDVSY0.98640.74351122
EPHA1-C11orf80chr7143095694chr11665835241423HLA-B35:77HADLVLPDVSY0.9820.77851122
EPHA1-C11orf80chr7143095694chr11665835241423HLA-B35:23HADLVLPDVSY0.98180.80861122
EPHA1-C11orf80chr7143095694chr11665835241423HLA-B35:20HADLVLPDVSY0.97950.8591122

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Potential FusionNeoAntigen Information of EPHA1-C11orf80 in HLA II

check button Multiple sequence alignments of the potential FusionNeoAntigens per fusion breakpoints. If the MSA is empty, then it means that there were predicted fusion neoantigens in this fusion breakpoint, but those predicted fusion neoantigens were not across the breakpoint, which is not fusion-specific.
EPHA1-C11orf80_143095694_66583524.msa

check button Potential FusionNeoAntigen Information
* We used NetMHCIIpan v4.1 (%rank<0.5).
Fusion geneHchrHbpTgeneTchrTbpHLA IIFusionNeoAntigen peptideNeoantigen start (at BP 13)Neoantigen end (at BP 13)
EPHA1-C11orf80chr7143095694chr11665835241423DRB1-1476HADLVLPDVSYQVES1126
EPHA1-C11orf80chr7143095694chr11665835241423DRB1-1479HADLVLPDVSYQVES1126
EPHA1-C11orf80chr7143095694chr11665835241423DRB1-1525HADLVLPDVSYQVES1126
EPHA1-C11orf80chr7143095694chr11665835241423DRB1-1525GHADLVLPDVSYQVE1025
EPHA1-C11orf80chr7143095694chr11665835241423DRB3-0101HADLVLPDVSYQVES1126
EPHA1-C11orf80chr7143095694chr11665835241423DRB3-0104HADLVLPDVSYQVES1126
EPHA1-C11orf80chr7143095694chr11665835241423DRB3-0108HADLVLPDVSYQVES1126
EPHA1-C11orf80chr7143095694chr11665835241423DRB3-0111HADLVLPDVSYQVES1126
EPHA1-C11orf80chr7143095694chr11665835241423DRB3-0112HADLVLPDVSYQVES1126
EPHA1-C11orf80chr7143095694chr11665835241423DRB3-0113HADLVLPDVSYQVES1126

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Fusion breakpoint peptide structures of EPHA1-C11orf80

check button3D structures of the fusion breakpoint peptide of 14AA sequence that have potential fusion neoantigens
* The minimum length of the amino acid sequence in RoseTTAFold is 14AA. Here, we predicted the 14AA fusion protein breakpoint sequence not the fusion neoantigen peptide, which is shorter than 14 AA.
File nameBPseqHgeneTgeneHchrHbpTchrTbpAAlen
8671SISMGHADLVLPDVEPHA1C11orf80chr7143095694chr11665835241423

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Filtering FusionNeoAntigens Through Checking the Interaction with HLAs in 3D of EPHA1-C11orf80

check buttonVirtual screening between 25 HLAs (from PDB) and FusionNeoAntigens
* We used Glide to predict the interaction between HLAs and neoantigens.
HLA allelePDB IDFile nameBPseqDocking scoreGlide score
HLA-B14:023BVN8671SISMGHADLVLPDV-7.9953-8.11
HLA-B14:023BVN8671SISMGHADLVLPDV-6.76387-7.80047
HLA-B52:013W398671SISMGHADLVLPDV-6.72115-6.83585
HLA-B52:013W398671SISMGHADLVLPDV-4.59437-5.63097
HLA-A24:025HGA8671SISMGHADLVLPDV-8.73414-8.84884
HLA-A24:025HGA8671SISMGHADLVLPDV-6.32039-7.35699
HLA-B44:053DX88671SISMGHADLVLPDV-5.20472-5.31942
HLA-B44:053DX88671SISMGHADLVLPDV-4.80907-5.84567
HLA-A02:016TDR8671SISMGHADLVLPDV0.647201-0.389399

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Vaccine Design for the FusionNeoAntigens of EPHA1-C11orf80

check button mRNA and peptide sequences of FusionNeoAntigens that have potential interaction with HLA-Is.
Fusion geneHchrHbpTchrTbpStart in +/-13AAEnd in +/-13AAFusionNeoAntigen peptide sequenceFusionNeoAntigen RNA sequence
EPHA1-C11orf80chr7143095694chr11665835241120HADLVLPDVATGCAGATTTGGTGCTTCCAGATGTGA
EPHA1-C11orf80chr7143095694chr11665835241122HADLVLPDVSYATGCAGATTTGGTGCTTCCAGATGTGAGTTATC
EPHA1-C11orf80chr7143095694chr11665835241222ADLVLPDVSYCAGATTTGGTGCTTCCAGATGTGAGTTATC
EPHA1-C11orf80chr7143095694chr1166583524716ISMGHADLVTCAGCATGGGGCATGCAGATTTGGTGC

check button mRNA and peptide sequences of FusionNeoAntigens that have potential interaction with HLA-IIs.
Fusion geneHchrHbpTchrTbpStart in +/-13AAEnd in +/-13AAFusionNeoAntigen peptideFusionNEoAntigen RNA sequence
EPHA1-C11orf80chr7143095694chr11665835241025GHADLVLPDVSYQVEGGCATGCAGATTTGGTGCTTCCAGATGTGAGTTATCAGGTGGAAT
EPHA1-C11orf80chr7143095694chr11665835241126HADLVLPDVSYQVESATGCAGATTTGGTGCTTCCAGATGTGAGTTATCAGGTGGAATCCA

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Information of the samples that have these potential fusion neoantigens of EPHA1-C11orf80

check button These samples were reported as having these fusion breakpoints. For individual breakpoints, we checked the open reading frames considering multiple gene isoforms and chose the in-frame fusion genes only. Then, we made fusion protein sequences and predicted the fusion neoantigens. These fusion-positive samples may have these potential fusion neoantigens.
Cancer typeFusion geneHchrHbpHenstTchrTbpTenstSample
COADEPHA1-C11orf80chr7143095694ENST00000275815chr1166583524ENST00000346672TCGA-AA-3842-01A

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Potential target of CAR-T therapy development for EPHA1-C11orf80

check button Predicted 3D structure. We used RoseTTAFold.

check buttonRetention analysis result of each fusion partner protein across 39 protein features of UniProt such as six molecule processing features, 13 region features, four site features, six amino acid modification features, two natural variation features, five experimental info features, and 3 secondary structure features. Here, to provide the retention of the transmembrane domain, we only show the protein feature retention information of those transmembrane features


* Minus value of BPloci means that the break point is located before the CDS.
- In-frame and retained 'Transmembrane'.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note

check button Subcellular localization prediction of the transmembrane domain retained fusion proteins
* We used DeepLoc 1.0. The order of the X-axis of the barplot is as follows: Entry_ID, Localization, Type, Nucleus, Cytoplasm, Extracellular, Mitochondrion, Cell_membrane, Endoplasmic_reticulum, Plastid, Golgi.apparatus, Lysosome.Vacuole, Peroxisome. Y-axis is the output score of DeepLoc. Clicking the image will open a new tab with a large image.
HgeneHchrHbpHenstTgeneTchrTbpTenstDeepLoc result

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Related Drugs to EPHA1-C11orf80

check button Drugs used for this fusion-positive patient.
(Manual curation of PubMed, 04-30-2022 + MyCancerGenome)
HgeneTgeneDrugSourcePMID

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Related Diseases to EPHA1-C11orf80

check button Diseases that have this fusion gene.
(Manual curation of PubMed, 04-30-2022 + MyCancerGenome)
HgeneTgeneDiseaseSourcePMID

check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource